Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

• Patrick Callier ,

  Contributed equally to this work with: Patrick Callier, Pierre Calvel, Armine Matevossian

  Affiliations Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland, FHU-TRANSLAD, Département de Génétique, Hôpital Le Bocage, CHU, Dijon, France, EA 4271 GAD Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France

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• Pierre Calvel ,

  Contributed equally to this work with: Patrick Callier, Pierre Calvel, Armine Matevossian

  Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

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• Armine Matevossian ,

  Contributed equally to this work with: Patrick Callier, Pierre Calvel, Armine Matevossian

  Affiliations Cell Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America, Gerstner Sloan-Kettering Graduate School of Biomedical Sciences, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America, Graduate Program in Pharmacology, Weill Graduate School of Medical Sciences of Cornell University, New York, New York, United States of America

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• Periklis Makrythanasis,

  Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

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• Pascal Bernard,

  Affiliation Department of Anatomy and Developmental Biology, Monash University, Clayton, Australia

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• Hiroshi Kurosaka,

  Affiliation Stowers Institute for Medical Research, Kansas City, Missouri, United States of America

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• Anne Vannier,

  Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

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• Christel Thauvin-Robinet,

  Affiliations FHU-TRANSLAD, Département de Génétique, Hôpital Le Bocage, CHU, Dijon, France, EA 4271 GAD Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France

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• Christelle Borel,

  Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

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• Séverine Mazaud-Guittot,

  Affiliation Institut National de la Santé et de la Recherche Médicale (Inserm) U1085-IRSET, Université de Rennes 1, Structure Fédérative Recherche Biosit, Campus de Beaulieu, Rennes, France

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• Antoine Rolland,

  Affiliation Institut National de la Santé et de la Recherche Médicale (Inserm) U1085-IRSET, Université de Rennes 1, Structure Fédérative Recherche Biosit, Campus de Beaulieu, Rennes, France

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• Christèle Desdoits-Lethimonier,

  Affiliation Institut National de la Santé et de la Recherche Médicale (Inserm) U1085-IRSET, Université de Rennes 1, Structure Fédérative Recherche Biosit, Campus de Beaulieu, Rennes, France

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• Michel Guipponi,

  Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

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• Céline Zimmermann,

  Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

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• Isabelle Stévant,

  Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

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• Françoise Kuhne,

  Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

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• Béatrice Conne,

  Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

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• Federico Santoni,

  Affiliation Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

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• Sandy Lambert,

  Affiliation FHU-TRANSLAD, Département de Génétique, Hôpital Le Bocage, CHU, Dijon, France

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• Frederic Huet,

  Affiliations FHU-TRANSLAD, Département de Génétique, Hôpital Le Bocage, CHU, Dijon, France, EA 4271 GAD Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France

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• Francine Mugneret,

  Affiliation FHU-TRANSLAD, Département de Génétique, Hôpital Le Bocage, CHU, Dijon, France

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• Jadwiga Jaruzelska,

  Affiliation Polish Academy of Sciences, Institute of Human Genetics, Poznań, Poland

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• Laurence Faivre,

  Affiliations FHU-TRANSLAD, Département de Génétique, Hôpital Le Bocage, CHU, Dijon, France, EA 4271 GAD Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France

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• Dagmar Wilhelm,

  Affiliation Department of Anatomy and Developmental Biology, Monash University, Clayton, Australia

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• Bernard Jégou,

  Affiliations Institut National de la Santé et de la Recherche Médicale (Inserm) U1085-IRSET, Université de Rennes 1, Structure Fédérative Recherche Biosit, Campus de Beaulieu, Rennes, France, EHESP School of Public Health, Rennes, France

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• Paul A. Trainor,

  Affiliations Stowers Institute for Medical Research, Kansas City, Missouri, United States of America, Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas, United States of America

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• Marilyn D. Resh,

  Affiliations Cell Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America, Gerstner Sloan-Kettering Graduate School of Biomedical Sciences, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America, Graduate Program in Pharmacology, Weill Graduate School of Medical Sciences of Cornell University, New York, New York, United States of America

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• Stylianos E. Antonarakis,

  Affiliations Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland, iGE3, Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland

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•  [ ... ],
• Serge Nef

  * E-mail: Serge.Nef@unige.ch

  Affiliations Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland, iGE3, Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland

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